The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research.

BACKGROUND: The history of rare diseases is largely unknown. Research on this topic has focused on individual cases of prominent (historical) individuals and artistic (e.g., iconographic) representations. Medical collections include large numbers of specimens that exhibit signs of rare diseases, but most of them date to relatively recent periods. However, cases of rare diseases detected in mummies and skeletal remains derived from archaeological excavations have also been recorded. Nevertheless, this direct evidence from historical and archaeological contexts is mainly absent from academic discourse and generally not consulted in medical research on rare diseases. RESULTS: This desideratum is addressed by the Digital Atlas of Ancient Rare Diseases (DAARD: https://daard.dainst.org ), which is an open access/open data database and web-based mapping tool that collects evidence of different rare diseases found in skeletons and mummies globally and throughout all historic and prehistoric time periods. This easily searchable database allows queries by diagnosis, the preservation level of human remains, research methodology, place of curation and publications. In this manuscript, the design and functionality of the DAARD are illustrated using examples of achondroplasia and other types of stunted growth. CONCLUSIONS: As an open, collaborative repository for collecting, mapping and querying well-structured medical data on individuals from ancient times, the DAARD opens new avenues of research. Over time, the number of rare diseases will increase through the addition of new cases from varied backgrounds such as museum collections and archaeological excavations. Depending on the research question, phenotypic or genetic information can be retrieved, as well as information on the general occurrence of a rare disease in selected space-time intervals. Furthermore, for individuals diagnosed with a rare disease, this approach can help them to build identity and reveal an aspect of their condition they might not have been aware of. Thus, the DAARD contributes to the understanding of rare diseases from a long-term perspective and adds to the latest medical research.

Madelung-type deformity in a female individual from the Merovingian Period in Central Germany: A rare finding or a rare disease?

OBJECTIVE: This paper presents a probable case of Madelung-type deformity of the right lower arm in an individual from the Merovingian burial ground (7th and 8 th century CE) from Gotha-Boilstädt (Germany). MATERIALS: A female individual with an age-at-death of 40-50 years was investigated. METHODS: Macroscopic, osteometric and radiographic analyses were performed using standard methods. RESULTS: The individual exhibits an unusual case of dysmelia of the right upper extremity. The shoulder and upper arm displayed gracile muscle attachment marks and less robustness compared to the left side. The ulna was shortened and distorted and the radius was severely deformed. CONCLUSIONS: The results indicate that the individual might have been affected by a unilateral Madelung-type deformity. The severity of this case is greater than that reported in the clinical literature. SIGNIFICANCE: This study places an ancient rare disease into archaeological and paleopathological contexts, allowing for the evaluation of the term "ancient rare disease." It also highlights the importance of reporting rigorously diagnosed cases in order to raise our level of awareness of the incidence and course of this rare condition in the past. LIMITATIONS: The diagnosis cannot be stated with certainty, and only a handful of possible diagnoses can be offered. Congenital and acquired etiologies must be considered, especially when compared with clinical cases where severity of conditions may be modified by medical intervention. SUGGESTIONS FOR FURTHER RESEARCH: Genetic analysis might be helpful in the determination of the etiology of the observed Madelung-type deformity.

Probable vestiges of metabolic diseases in Roman Imperial cremations from Northern Germany.

In 2011, a cremation burial ground from the Roman Imperial Period (2nd - 3rd century CE) was detected at the site of Gessel (district of Diepholz) in Northern Germany. The anthropological investigation of 21 cremations from this burial ground revealed a total of 22 individuals: 10 adults of both sexes and 12 children of less than 7 years. All cremations were obviously carried out at high temperatures above 750 °C. Most of them were very well and representatively preserved, and not too fragmented. This excellent state of preservation offered us a unique chance to diagnose a variety of pathological conditions. In six cremations of subadult individuals, possible vestiges of metabolic diseases were observed. Evidence of traits such as cribra orbitalia and porotic hyperostosis, as well as porous ventral surfaces of the femoral neck and the vertebral bodies was established in the cremations of five subadult individuals. Light microscopically, these traits could be identified as having resulted from bone marrow expansion, indicating anaemia as the probable cause. In two individuals, a layer-like structure of the skull vault was observed, which is often connected to rickets. Furthermore, in three subadult individuals demonstrating anaemic features of marrow expansion, additionally, fine porous new bone formations due to haemorrhages were observed in areas of mechanical load or mastication, possibly indicating scurvy. Against the background of the temporal and geographical context, different factors such as nutritional deficiencies, intestinal parasite or malaria infestations must be considered as possibly causative for the distinct skeletal vestiges of metabolic diseases. Furthermore, a connection between the three pathological conditions seems likely.

Vestiges of autopsies and surgical procedures in the "Baron von Asch" skulls of the Blumenbach Skull Collection in Göttingen.

Some of the oldest specimens from the Blumenbach Skull Collection were provided by Baron Georg Thomas von Asch (1729-1807) from Saint Petersburg, who was staff-surgeon general of the Imperial Russian Army, and Privy Council for Empress Catherine II. The 63 human skulls, which originate from all over the Russian Empire, provide the basis of a new anthropological and palaeopathological investigation. The distribution of age-at-death and sex of the skull sample reveals that most of the individuals were young adult males. Cut marks, as well as remnants of soft tissue, deliver information about the preparation of the skulls. Some skulls were craniotomised. The way the craniotomies were performed suggests that they mostly were carried out for autoptic reasons. Two of the skulls show trepanation openings from a circular cranial trepan. One of these individuals obviously died during or soon after the surgical event, while the other one survived the procedure. The interpretation of the results of the anthropological and palaeopathological analysis gives an interesting insight into the character of these collection specimens. Furthermore, it reveals essential information about autoptic and surgical practice during the second half of the 18th century AD.